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Large chromosomal deletions that span LIS1 cause Miller-Dieker syndrome, in which lissencephaly is associated with distinctive facial abnormalities; small defects in the same gene cause only lissencephaly Lissencephaly with cerebellar hypoplasia is caused by mutations in the human reelin gene (RELN), the analogue of the defective gene in reelin mice (which show a reeling gait and abnormal cortical neuronal lamination) Defects in the transcription factor ARX are associated with X-linked lissencephaly, agenesis of the corpus callosum, and hypogonadism Periventricular nodular heterotopia is caused by another gene defect, lamin A gene on the X chromosome Microcephaly In the above-mentioned cerebral dysplasias, the cranium and brain are small, but there is also a primary form of hereditary microcephaly, called microcephaly vera, in which the head is astonishingly reduced in size (circumference less than 45 cm in adult life ie, 5 standard deviations below the mean).

The Dead Gira e DISORDER TABLE for 6 (Key Text Facts About Biological Disorder Within An Organism)

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In contrast, the face is of normal size, the forehead is narrow and recedes sharply, and the occiput is at Stature is usually moderately reduced Such individuals can be recognized at birth by their anthropoid appearance and later by their lumbering gait, extremely low intelligence, and lack of communicative speech Vision, hearing, and cutaneous sensation are spared In one of our colleagues cases, by laborious effort using operant conditioning, it was possible to teach the patient the shapes of simple gures (His sister s brain, examined by R D Adams, was malformed and weighed only 280 g) In such cases the tendon re exes in the legs are brisk, and the plantar re exes may be extensor Skull lms show that the cranial sutures are present, as are convolutional markings on the inner table.

The brain often weighs less than 300 g (normal adult range, 1100 to 1500 g) and shows only a few primary and secondary sulci The cerebral cortex is thick and unlaminated and grossly de cient in neurons In a few reported cases, there has been an associated cerebellar hypoplasia or an infantile muscular atrophy Lesser degrees of microencephaly have been associated with progressive motor neuron disease and degeneration of the substantia nigra (Halperin et al) Evrard and associates have described another rare, special type of microcephaly, which they call radial microbrain Birth is at term, but the infant dies in the rst month of postnatal life The sulcal pattern is normal, and neuronal arrangements in the cerebral cortex are normal as well The defect appears to be in the small number of neurons that are generated, not in their migration.

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Disorders of the Pial Surface This category of maldevelopment is characterized by inappropriate migration of neurons to the pial.

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Just above the northern crown you will see a bright star at an elevation of about 45 degrees, directly east or a little south of east. This is Arcturus. If you use your imagination, you might see that this star forms the point where a fish joins its tail; the fish appears to be swimming horizontally (Fig. 2-15). This constellation, Bootes, does not represent a fish but a herdsman. His job, in legend, is to drive Ursa Major, the great bear, forever around the north pole.

lattice (crystal), 57 59 levels of biological organization (the Pyramid of Life), 17 20, 26 leuk, 294 leukocytes, 294 lever, 241 lichens, 133 134 life: origin of, 31 33 Life-line, 76 77 limb buds, 356 lip, 61 lipids, 61 liver, 331, 334 337 liverworts, 142 143 living organisms, 6 6 lobster, 178 180 locusts, 187 long bone, 225 227 longitudinal axis, 195 lower motor neuron, 251 253 lower (first-order) sensory neuron, 254 255 lungs, 312 320 lung volumes and capacities: residual volume (RV), 321 322 tidal volume (TV), 321 322 total lung capacity (TLC), 321 322 vital capacity (VC), 321 322 luteinizing hormone (LH), 269 271 lymph, 301 302 lymphatic capillaries, 301 lymphatic organs, 301: lymph nodes, 305 506 red bone marrow, 305 506 spleen, 305 506 thymus gland, 305 506 lymphatic (reticuloendothelial) system, 301 302 lymphocytes: bone marrow (B) lymphocytes, 303 304 thymic (T) lymphocytes, 303 304 lys/lyt, 58, 81 lysosome, 80 01 macr, 303 macrophages, 302 304 mamm, 27, 202 mammals (Class Mammalia), 39 41, 102 103, 196: marsupials, 202 203

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